title: Nuclear factor erythroid 2-related factor gene variants and susceptibility of arsenic-related skin lesions.
abstract: Inorganic arsenic (iAs) is an important pollutant associated with various chronic-degenerative diseases. The cytoprotective protein nuclear factor erythroid 2-related factor (NRF2) has been proposed as an important responsive mechanism against iAs exposure. The aim of this study was to determine whether the risk of skin lesions in people exposed to iAs-contaminated water could be modified by the presence of single nucleotide polymorphisms in the NRF2 coding gene. We studied 117 individuals with long-term iAs exposure and 120 nonexposed individuals. Total As was determined in water, meanwhile iAs and its metabolites were measured in urine. The iAs-induced skin lesion status was evaluated by expert dermatologists. We sequenced the promoter region of NRF2 in a sample of 120 healthy donors. We found four polymorphisms previously reported and one novel polymorphism in the 5' regulatory region of the NRF2. In this study, we did not find allelic and genotype association of NRF2 polymorphisms with iAs-related skin lesion. However, the analysis of haplotypes composed by -653GA, and -617CA NRF2 single nucleotide polymorphisms showed a significant association with protection against skin lesions in the low-As exposure group. This is the first report studying the association between NRF2 polymorphisms and susceptibility of As-related skin lesions. Increasing the sample size will allow us to confirm this data.
authors.affiliation: Immunogenomics and Metabolic Diseases, National Institute of Genomic Medicine, Health Ministry, Mexico City, Mexico.
authors.forename: E J
authors.initials: EJ
authors.lastname: Cordova
authors.affiliation: Department of Toxicology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (Cinvestav-IPN), Mexico City, Mexico.
authors.forename: O L
authors.initials: OL
authors.lastname: Valenzuela
authors.affiliation: Department of Toxicology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (Cinvestav-IPN), Mexico City, Mexico.
authors.forename: L C
authors.initials: LC
authors.lastname: Sánchez-Peña
authors.affiliation: Blood Bank Laboratory, Instituto Nacional de Pediatría, SS, Mexico City, Mexico.
authors.forename: G
authors.initials: G
authors.lastname: Escamilla-Guerrero
authors.affiliation: Sección de Investigación y Posgrado, Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City, Mexico.
authors.forename: A
authors.initials: A
authors.lastname: Hernández-Zavala
authors.affiliation: Immunogenomics and Metabolic Diseases, National Institute of Genomic Medicine, Health Ministry, Mexico City, Mexico Posgrado en Ciencias Genómicas, Universidad Autónoma de la Ciudad de México, Mexico City, Mexico lorozco@inmegen.gob.mx.
authors.forename: L
authors.initials: L
authors.lastname: Orozco
authors.affiliation: Department of Toxicology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (Cinvestav-IPN), Mexico City, Mexico.
authors.forename: L M
authors.initials: LM
authors.lastname: Del Razo
mesh_terms: D000293:Adolescent; D000328:Adult; D001151:Arsenic / Q000009:adverse effects*; D020261:Arsenic Poisoning / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D051267:NF-E2-Related Factor 2 / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D065840:Protective Factors; D012307:Risk Factors; D012871:Skin Diseases / Q000139:chemically induced* / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D014874:Water Pollutants, Chemical / Q000009:adverse effects*; D055815:Young Adult
chemical_list: D051267:NF-E2-Related Factor 2; C495635:NFE2L2 protein, human; D014874:Water Pollutants, Chemical; D001151:Arsenic
keywords: Arsenic; NRF2; skin lesions